scholarly journals Shifting syndromes: Sex chromosome variations and intersex classifications

2018 ◽  
Vol 48 (1) ◽  
pp. 125-148 ◽  
Author(s):  
David Andrew Griffiths
Keyword(s):  
Lived Experience ◽  
Classification System ◽  
Consensus Statement ◽  
Sex Chromosome ◽  
Disorders Of Sex Development ◽  
Current Drive ◽  
Medical Community ◽  
New Classification ◽  
Sex Development

The 2006 ‘Consensus statement on management of intersex disorders’ recommended moving to a new classification of intersex variations, framed in terms of ‘disorders of sex development’ or DSD. Part of the rationale for this change was to move away from associations with gender, and to increase clarity by grounding the classification system in genetics. While the medical community has largely accepted the move, some individuals from intersex activist communities have condemned it. In addition, people both inside and outside the medical community have disagreed about what should be covered by the classification system, in particular whether sex chromosome variations and the related diagnoses of Turner and Klinefelter’s syndromes should be included. This article explores initial descriptions of Turner and Klinefelter’s syndromes and their subsequent inclusion in intersex classifications, which were increasingly grounded in scientific understandings of sex chromosomes that emerged in the 1950s. The article questions the current drive to stabilize and ‘sort out’ intersex classifications through a grounding in genetics. Alternative social and historical definitions of intersex – such as those proposed by the intersex activists – have the potential to do more justice to the lived experience of those affected by such classifications and their consequences.

Observational study of disorders of sex development in Yaounde, Cameroon

2020 ◽  
Vol 33 (3) ◽  
pp. 417-423
Author(s):  
Suzanne Ngo Um Sap ◽  
Ritha Mbono Betoko ◽  
Martine Etoa Etoga ◽  
Pierre Yves Mure ◽  
Yves Morel ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Disorders Of Sex Development ◽  
Central Africa ◽  
Main Diagnosis ◽  
Pediatric Endocrinology ◽  
Endocrine Society ◽  
Sex Development ◽  
Mother And Child ◽  
Study Population ◽  
Sub Saharan

AbstractIntroductionAccording to the current classification of the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Pediatric Endocrinology (ESPE) of Disorders of Sex Development (DSD), etiologies vary around the world. Ethnic or genetic diversity probably explains this variability. We therefore conducted the present study on etiologies of DSDs in a country from central Africa.MethodsWe carried out an observational retrospective study at the Pediatric Endocrinology Unit of the Mother and Child Centre of the Chantal Biya Foundation in Yaounde, Cameroon from May 2013 to December 2019. All patients diagnosed with a DSD were included, and incomplete files excluded.ResultsWe included 80 patients diagnosed with DSD during the study period. The 46,XX DSD were the most frequent in our study population (n = 41, 51.25%), with congenital adrenal hyperplasia (CAH) as the main diagnosis. The 46,XY DSD accounted for 33.75% and sex chromosome DSD group represented 15% of the study population.ConclusionsDSDs are not an exceptional diagnosis in a Sub-Saharan context. 46,XX DSD are the most prevalent diagnosis in our setting. The diagnosis of all these affections is late compared to other centers, justifying advocacy for neonatal screening of DSDs in our context.

scholarly journals Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents

2019 ◽  
Vol 2019 ◽  
pp. 1-9
Author(s):  
Prisca Amolo ◽  
Paul Laigong ◽  
Anjumanara Omar ◽  
Stenvert Drop
Keyword(s):  
Children And Adolescents ◽  
Sex Chromosome ◽  
Clinical Laboratory ◽  
Molecular Genetic ◽  
Management Strategies ◽  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Molecular Genetic Analysis ◽  
High Rate ◽  
Sex Development

Objective. The purpose of this study was to describe baseline data on etiological, clinical, laboratory, and management strategies in Kenyan children and adolescents with Disorders of Sex Development (DSD). Methods. This retrospective study included patients diagnosed with DSD who presented at ages 0–19 years from January 2008 to December 2015 at the Kenyatta National (KNH) and Gertrude’s Children’s (GCH) Hospitals. After conducting a search in the data registry, a structured data collection sheet was used for collection of demographic and clinical data. Data analysis involved description of the frequency of occurrence of various variables, such as etiologic diagnoses and patient characteristics. Results. Data from the records of 71 children and adolescents were reviewed at KNH (n = 57, 80.3%) and GCH (n = 14, 19.7%). The mean age at the time of diagnosis was 2.7 years with a median of 3 months. Thirty-nine (54.9%) children had karyotype testing done. The median age (IQR) of children with reported karyotypes and those without was 3.3 years (1.3–8.9) and 8.3 years (3.6–12.1), respectively (p=0.021). Based on karyotype analysis, 19 (48.7%) of karyotyped children had 46,XY DSD and 18 (46.2%) had 46,XX DSD. There were two (5.1%) children with sex chromosome DSD. Among the 71 patients, the most common presumed causes of DSD were ovotesticular DSD (14.1%) and CAH (11.3%). Majority (95.7%) of the patients presented with symptoms of DSD at birth. The most common presenting symptom was ambiguous genitalia, which was present in 66 (93.0%) patients either in isolation or in association with other symptoms. An ambiguous genitalia was initially observed by the patient’s mother in 51.6% of 62 cases despite the high rate (84.7%) of delivery in hospital. Seventeen (23.9%) of the cases had a gender reassignment at final diagnosis. A psychologist/psychiatrist or counselor was involved in the management of 23.9% of the patients. Conclusion. The commonest presumed cause of DSD was ovotesticular DSD in contrast to western studies, which found CAH to be more common. Investigation of DSD cases is expensive and needs to be supported. We would have liked to do molecular genetic analysis outside the country but financial challenges made it impossible. A network for detailed diagnostics in resource-limited countries would be highly desirable. There is a need to train health care workers and medical students for early diagnosis. Psychological evaluation should be carried out for all patients at diagnosis and support given for families.

A Novel Acromion Radiological Classification and Its Clinical Application Study: Comparing Rockwood Tilt View with Arthroscopic Findings in 101 Shoulders

2020 ◽  
Vol 10 (5) ◽  
pp. 1184-1189
Author(s):  
Yingchun Zhu ◽  
Xuewen Jia ◽  
Zhanping Jin ◽  
Yunfeng Mi ◽  
Zheyang Wang ◽  
...  
Keyword(s):  
Rotator Cuff ◽  
Rotator Cuff Tear ◽  
Classification System ◽  
Supraspinatus Tendon ◽  
New Classification ◽  
Tendon Tear ◽  
Cuff Tear ◽  
Observer Reliability ◽  
Traditional Classification

Background: It is estimated that more than 25% of general population more than 60 years old experience rotator cuff tear, acromial impingement syndrome is one of the most common causes. Morphology of acromion is an important extrinsic factor in the development of rotator cuff tear. The traditional classification of the acromion by Bigliani et al. based on supraspinatus outlet view has been widely used, but due to the high requirements for patients to obtain true supraspinatus outlet view and the poor inter-observer reliability, it brings lots of limitations to the clinical use of this classification. In our clinical work, we have noticed that the formation of acromial anterolateral spur on Rockwood tilt view has some relationship to a rotator cuff tear. Objectives: To develop a new classification of acromion based on the subacromial impingement theory and the Rockwood tilt view. And explore the application value of the new classification in the diagnosis and treatment of rotator cuff tear. Methods: From January 2017 to December 2017, 101 cases of shoulder arthroscopic surgeries for impingement syndrome or rotator cuff tear were retrospectively analyzed. We developed a new classification of the acromion based on the Rockwood tilt view as type I flat acromion, type II bump acromion and type III impingement acromion. The status of the supraspinatus tendon was also recorded as no tear, partial-thickness tear, and full-thickness tear. We tested the inter-observer and intra-observer reliability of the new classification system (Kappa value) and analyzed the correlation between the acromion morphology and the rupture of the supraspinatus tendon. Results: In all 101 cases, the most common type was the impingement acromion with 46 patients (45.5%), followed by bump acromion in 37 patients (36.6%), and the flat acromion in 18 patients (17.8%). The inter-observer reliability of the new classification system was significantly better than that of the traditional classification (0.826 vs. 0.281). The incidence of supraspinatus tendon tear in the patients with impingement acromion was significantly higher than that of the other two types of acromion (ϰ2 = 50.316,P < 0.05). Conclusion: The Rockwood tilt view can well demonstrate the exact architecture of the anterolateral acromion spur. The new classification based on Rockwood tilt view has high reliability and good reproducibility. The type III impingement acromion correlates highly with the supraspinatus tendon tear. Level of evidence: Level II.

scholarly journals Inter- and Intra-Observer Variation of the Schatzker and AO/OTA Classifications of Tibial Plateau Fractures and a Proposal of a New Classification System

2007 ◽  
Vol 89 (4) ◽  
pp. 400-404 ◽  
Author(s):  
CP Charalambous ◽  
M Tryfonidis ◽  
F Alvi ◽  
M Moran ◽  
C Fang ◽  
...  
Keyword(s):  
Classification System ◽  
Tibial Plateau ◽  
Observer Variation ◽  
Tibial Plateau Fractures ◽  
New Classification ◽  
Plain Radiographs

INTRODUCTION The aim of this study was to evaluate the intra- and inter-observer variation of the Schatzker and AO/OTA classifications in assessing tibial plateau fractures, using plain radiographs. PATIENTS AND METHODS Fifty tibial plateau fractures were classified independently by six observers as per the Schatzker and AO/OTA classifications, using antero-posterior and lateral plain radiographs. Assessment was done on two occasions, 8 weeks apart. RESULTS We found that both the Schatzker and AO/OTA classifications have a high intra-observer (κ = 0.57 and 0.53, respectively), and inter-observer (κ = 0.41 and 0.43, respectively) variation. Classification of tibial plateau fractures into unicondylar versus bicondylar and pure splits versus articular depression ± split conferred improved inter- and intra-observer variation. CONCLUSIONS The high inter-observer variation found for the Schatzker and AO/OTA classifications must be taken into consideration when these are used as a guidance of treatment and when used in evaluating patients' outcome. Simply classifying tibial plateau fractures into unicondylar versus bicondylar and pure splits versus articular depression ± split may be more reliable.

scholarly journals A New Classification of Talocalcaneal Coalitions Based On Computed Tomography For Operative Planning

2021 ◽  
Author(s):  
Anhong Wang ◽  
Weili Shi ◽  
Linxin Chen ◽  
Xing Xie ◽  
Feng Zhao ◽  
...  
Keyword(s):  
Classification System ◽  
Subtalar Joint ◽  
Type I ◽  
Type Ii ◽  
New Classification ◽  
Type Iv ◽  
Talocalcaneal Coalition ◽  
Operative Planning ◽  
Accessory Ossicle

Abstract Background Current classifications emphasize the morphology of the coalition, however, subtalar joint facets involved should also be emphasized.Objective The objective of this study was to develop a new classification system based on the articular facets involved to cover all coalitions and guide operative planning.Methods Patients were diagnosed with talocalcaneal coalition using a CT scan, between January 2009 and February 2021. We classified the coalition into four main types according to the shape and nature of the coalition: I, inferiorly overgrown talus or superiorly overgrown calcaneus; II, both talus and calcaneus overgrew; III, coalition with an accessory ossicle; (I-III types are non-osseous coalition) IV, complete osseous coalition. Then each type was further divided into three subtypes according to the articular facets involved. A, the coalition involving the anterior facets; M, the coalition involving the middle facets, and P, the coalition involving the posterior facets.Results There were 106 patients (108 feet) included in this study. Overall, 8 feet (7.5%) were classified as type I, 75 feet (69.4%) as type II, 7 feet (6.5%) as type III, and 18 feet (16.7%) as type IV. Twenty-nine coalitions (26.9%) involved the posterior facets only (subtype-P), 74 coalitions (68.5%) involved both the middle and posterior facets (subtype-MP), and five coalitions (4.6%) simultaneously involved the anterior, middle, and posterior facets (subtype-AMP). Type II-MP coalition was the most common.Conclusion A new classification system of the talocalcaneal coalition to facilitate operative planning was developed.

scholarly journals Posttraumatic Lateral Dislocation of Mandibular Condyle: A Proposed New Classification with Report of 14 Dislocated Condyles

2019 ◽  
Vol 12 (4) ◽  
pp. 249-253 ◽  
Author(s):  
Tabishur Rahman ◽  
Ghulam Sarwar Hashmi ◽  
Syed Saeed Ahmed ◽  
Sajjad Abdur Rahman
Keyword(s):  
Clinical Experience ◽  
Classification System ◽  
Clinical Condition ◽  
Mandibular Condyle ◽  
Classification Systems ◽  
Radiological Findings ◽  
New Classification ◽  
Lateral Dislocation

Lateral dislocation of the intact mandibular condyle is a relatively uncommon clinical condition. Since the first description and classification of these dislocations given by Allen and Young, few classification systems have been proposed in literature with incorporation of different patterns of dislocations identified over the years. We share our clinical experience of nine cases of such dislocations with 14 dislocated condyles, and on the basis of clinical and radiological findings coupled with the review of existing classification systems, we propose a new classification system which includes all the possible patterns of such dislocations overcoming the major shortcomings of preexisting classification systems identified by the authors.

Classification and Nomenclature: Progressive Collapsing Foot Deformity

2020 ◽  
Vol 41 (10) ◽  
pp. 1271-1276 ◽  
Author(s):  
Mark S. Myerson ◽  
David B. Thordarson ◽  
Jeffrey E. Johnson ◽  
Beat Hintermann ◽  
Bruce J. Sangeorzan ◽  
...  
Keyword(s):  
Classification System ◽  
Consensus Statement ◽  
Classification Systems ◽  
Posterior Tibial Tendon ◽  
Foot Deformity ◽  
New Classification ◽  
Level Of Evidence ◽  
3 Dimensional ◽  
Posterior Tibial ◽  
Consensus Statements

Recommendation: The historical nomenclature for the adult acquired flatfoot deformity (AAFD) is confusing, at times called posterior tibial tendon dysfunction (PTTD), the adult flexible flatfoot deformity, posterior tibial tendon rupture, peritalar instability and peritalar subluxation (PTS), and progressive talipes equinovalgus. Many but not all of these deformities are associated with a rupture of the posterior tibial tendon (PTT), and some of these are associated with deformities either primarily or secondarily in the midfoot or ankle. There is similar inconsistency with the use of classification schemata for these deformities, and from the first introduced by Johnson and Strom (1989), and then modified by Myerson (1997), there have been many attempts to provide a more comprehensive classification system. However, although these newer more complete classification systems have addressed some of the anatomic variations of deformities encountered, none of the above have ever been validated. The proposed system better incorporates the most recent data and understanding of the condition and better allows for standardization of reporting. In light of this information, the consensus group proposes the adoption of the nomenclature “Progressive Collapsing Foot Deformity” (PCFD) and a new classification system aiming at summarizing recent data published on the subject and to standardize data reporting regarding this complex 3-dimensional deformity. Level of Evidence: Level V, consensus, expert opinion. Consensus Statements Voted: CONSENSUS STATEMENT ONE: We will rename the condition to Progressive Collapsing Foot Deformity (PCFD), a complex 3-dimensional deformity with varying degrees of hindfoot valgus, forefoot abduction, and midfoot varus. Delegate vote: agree, 100% (9/9); disagree, 0%; abstain, 0%. (Unanimous, strongest consensus) CONSENSUS STATEMENT TWO: Our current classification systems are incomplete or outdated. Delegate vote: agree, 100% (9/9); disagree, 0%; abstain, 0%. (Unanimous, strongest consensus) CONSENSUS STATEMENT THREE: MRI findings should be part of a new classification system. Delegate vote: agree, 33% (3/9); disagree, 67% (6/9); abstain, 0%. (Weak negative consensus) CONSENSUS STATEMENT FOUR: Weightbearing CT (WBCT) findings should be part of a new classification system. Delegate vote: agree, 56% (5/9); disagree, 44% (4/9); abstain, 0%. (Weak consensus) CONSENSUS STATEMENT FIVE: A new classification system is proposed and should be used to stage the deformity clinically and to define treatment. Delegate vote: agree, 89% (8/9); abstain, 11% (1/9). (Strong consensus)

scholarly journals A Case of Clitoral Hypertrophy of Unknown Origin

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Tetsuya Okaneya ◽  
Kiyoshi Onishi ◽  
Michio Saze ◽  
Kei Iwakura ◽  
Hiroko Sakuma
Keyword(s):  
Rare Case ◽  
Sex Chromosome ◽  
Disorders Of Sex Development ◽  
Unknown Origin ◽  
Chief Complaint ◽  
Normal Morphology ◽  
Sex Development ◽  
Clitoral Hood

Clitoral hypertrophy is caused by disorders of sex development and it is observed from birth in most cases. We encountered a patient in whom normal morphology at birth may have acquired deformity and hypertrophy. The patient was a 10-year-old girl with a chief complaint of pudendal deformity. The clitoral hood was enlarged and the clitoris size was 8 x 5 mm on the first examination. Various tests were performed. Sex chromosome or hormonal abnormalities and tumorous lesions were not detected, and the ovaries, uterus, and vagina were normal, indicating that disorders of mullerian development were negative. In surgery, reconstruction of the vulva was performed following the Marberger method. The present case may have been a very rare case of acquired hypertrophy of unknown origin.

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